A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts

American Journal of Human Genetics

Volumn 74, Issue 4, 2004, Pages 731-737

  Zenker, Martin ^a   Rauch, Anita ^a   Winterpacht, Andreas ^a   Tagariello, Andreas ^a   Kraus, Cornelia ^a   Rupprecht, Thomas ^a   Sticht, Heinrich ^a   Reis, André ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE;

ALLELISM; AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; DONOR SITE; DUAL PHENOTYPE; FLNA GENE; FRONTOMETAPHYSEAL DYSPLASIA; GAIN OF FUNCTION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HETEROTOPIA; HUMAN; KARYOTYPE; LOSS OF FUNCTION; NUCLEOTIDE SEQUENCE; PERIVENTRICULAR NODULAR HETEROTOPIA; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RESIDUE ANALYSIS; TRANSCRIPTION REGULATION;

EID: 1842539541     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/383094     Document Type: Article

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